Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Short-rib thoracic dysplasia with or without polydactyly 02

Short-rib thoracic dysplasia with or without polydactyly type 2 is an autosomal recessive or digenic recessive disorder caused by mutations in the IFT80 gene.

Systematic

Short-rib thoracic dysplasia with or without polydactyly
Short-rib thoracic dysplasia with or without polydactyly 01
Short-rib thoracic dysplasia with or without polydactyly 02
IFT80
Short-rib thoracic dysplasia with or without polydactyly 03
Short-rib thoracic dysplasia with or without polydactyly 04
Short-rib thoracic dysplasia with or without polydactyly 05
Short-rib thoracic dysplasia with or without polydactyly 06
Short-rib thoracic dysplasia with or without polydactyly 07
Short-rib thoracic dysplasia with or without polydactyly 08
Short-rib thoracic dysplasia with or without polydactyly 09
Short-rib thoracic dysplasia with or without polydactyly 10
Short-rib thoracic dysplasia with or without polydactyly 11
Short-rib thoracic dysplasia with or without polydactyly 12
Short-rib thoracic dysplasia with or without polydactyly 13
Short-rib thoracic dysplasia with or without polydactyly 14
Short-rib thoracic dysplasia with or without polydactyly 15
Short-rib thoracic dysplasia with or without polydactyly 16
Short-rib thoracic dysplasia with or without polydactyly 17
Short-rib thoracic dysplasia with or without polydactyly 18
Short-rib thoracic dysplasia with or without polydactyly 19

References:

1.

Beales PL et. al. (2007) IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.

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2.

Tüysüz B et. al. (2009) Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.

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3.

Cavalcanti DP et. al. (2011) Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.

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4.

Schmidts M et. al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

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5.

Huber C et. al. (2012) Ciliary disorder of the skeleton.

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Update: Sept. 26, 2018